Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_002055.5(GFAP):c.934G>T (p.Glu312Ter)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Apr 14, 2016)
Last evaluated:
Mar 18, 2016
Accession:
VCV000190351.1
Variation ID:
190351
Description:
single nucleotide variant
Help

NM_002055.5(GFAP):c.934G>T (p.Glu312Ter)

Allele ID
188171
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 44911429 (GRCh38) GRCh38 UCSC
17: 42988797 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.42988797C>A
NC_000017.11:g.44911429C>A
NG_008401.1:g.9118G>T
... more HGVS
Protein change
E312*
Other names
-
Canonical SPDI
NC_000017.11:44911428:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA347214
dbSNP: rs763868966
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Mar 18, 2016 RCV000192151.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GFAP - - GRCh38
GRCh37
236 267

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 18, 2016)
criteria provided, single submitter
Method: reference population
Alexander Disease
Allele origin: germline
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center
Accession: SCV000267337.1
Submitted: (Apr 14, 2016)
Evidence details
Publications
PubMed (3)
Pathogenic
(Jan 08, 2015)
no assertion criteria provided
Method: literature only
Alexander's disease
Allele origin: germline
GeneReviews
Accession: SCV000223015.1
Submitted: (Jan 08, 2015)
Evidence details
Publications
PubMed (1)
Other databases
http://www.ncbi.nlm.nih.gov/book…

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Alexander Disease Srivastava S - 2020 PMID: 20301351
Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease. Nam TS European journal of human genetics : EJHG 2015 PMID: 24755947
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Li R Annals of neurology 2005 PMID: 15732097
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Brenner M Nature genetics 2001 PMID: 11138011
http://www.ncbi.nlm.nih.gov/books/NBK1172/ - - - -

Text-mined citations for rs763868966...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 18, 2021